At Yale New Haven Children's Hospital, highly trained and board-certified genetics physicians provide diagnosis, evaluation, counseling and management of genetic and congenital conditions. The team includes genetic counselors, advanced practice nurses, a genetic nutritionist and a newborn screening nurse.

The team offers advanced genetic testing, including chromosome microarrays and genomic sequencing. A wide range of genetic services are offered, including care of patients with neuro-developmental conditions, genetic syndrome, cancer, prenatal and newborn genetic screening.


We provide management and clinical care of patients with a wide range of genetic disorders. For newborn screenings, assessments of labs are done quickly and we work together with the infant's primary care physician. Multi-specialty clinics are available for patients with Down syndrome, neuromuscular diseases and cardiac genetic conditions.

Genetic counseling is available to patients and their families once a diagnosis is identified. Counseling focuses on the patient’s condition and its impact on the family and family planning. Counseling also includes psychosocial issues, available support services, and interpretation and direction for complex genetic or genomic laboratory testing.